Abbs S, Roberts RG, Mathew CG et al (1990) Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics 7:602–606. https://doi.org/10.1016/0888-7543(90)90205-9

Article  CAS  PubMed  Google Scholar 

Birnkrant DJ, Bushby K, Bann CM et al (2018) Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol 17:347–361. https://doi.org/10.1016/S1474-4422(18)30025-5

Article  PubMed  PubMed Central  Google Scholar 

Capalbo A, Valero RA, Jimenez-Almazan J et al (2019) Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: translational research genomic data from 14,125 exomes. PLoS Genet 15:e1008409. https://doi.org/10.1371/journal.pgen.1008409

Article  CAS  PubMed  PubMed Central  Google Scholar 

Capalbo A, Fabiani M, Caroselli S et al (2021) Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population. Hum Reprod 36:2050–2061. https://doi.org/10.1093/humrep/deab087

Article  CAS  PubMed  Google Scholar 

Chen JD, Hejtmancik JF, Romeo G et al (1989) A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus. Genomics 4:105–109. https://doi.org/10.1016/0888-7543(89)90322-4

Article  CAS  PubMed  Google Scholar 

De Rycke M, Berckmoes V (2020) Preimplantation genetic testing for monogenic disorders. Genes (Basel). https://doi.org/10.3390/genes11080871

Article  PubMed  PubMed Central  Google Scholar 

Duan D, Goemans N, Takeda S et al (2021) Duchenne muscular dystrophy. Nat Rev Dis Primers 7:13. https://doi.org/10.1038/s41572-021-00248-3

Article  PubMed  PubMed Central  Google Scholar 

Group EP-MW, Carvalho F, Moutou C et al (2020) ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders. Hum Reprod Open. https://doi.org/10.1093/hropen/hoaa018

Article  Google Scholar 

Harton GL, De Rycke M, Fiorentino F et al (2011) ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod 26:33–40. https://doi.org/10.1093/humrep/deq231

Article  CAS  PubMed  Google Scholar 

Hu X, He WB, Zhang SP et al (2021) Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism. Mol Genet Genomic Med 9:e1662. https://doi.org/10.1002/mgg3.1662

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hu X, Wang W, Luo K et al (2024) Extended application of PGT-M strategies for small pathogenic CNVs. J Assist Reprod Genet 41:739–750. https://doi.org/10.1007/s10815-024-03028-6

Article  PubMed  Google Scholar 

Huang L, Ma F, Chapman A et al (2015) Single-cell whole-genome amplification and sequencing: methodology and applications. Annu Rev Genomics Hum Genet 16:79–102. https://doi.org/10.1146/annurev-genom-090413-025352

Article  CAS  PubMed  Google Scholar 

Kong X, Zhong X, Liu L et al (2019) Genetic analysis of 1051 Chinese families with duchenne/becker muscular dystrophy. BMC Med Genet 20:139. https://doi.org/10.1186/s12881-019-0873-0

Article  CAS  PubMed  PubMed Central  Google Scholar 

Konstantinidis M, Ravichandran K, Gunes Z et al (2020) Aneuploidy and recombination in the human preimplantation embryo. Copy number variation analysis and genome-wide polymorphism genotyping. Reprod Biomed Online 40:479–493. https://doi.org/10.1016/j.rbmo.2019.12.008

Article  CAS  PubMed  Google Scholar 

Lee I, Alur-Gupta S, Gallop R et al (2020) Utilization of preimplantation genetic testing for monogenic disorders. Fertil Steril 114:854–860. https://doi.org/10.1016/j.fertnstert.2020.05.045

Article  PubMed  Google Scholar 

Lin J, Li H, Liao Z et al (2021) Comparison of carrier and de novo pathogenic variants in a Chinese DMD/BMD cohort. Front Neurol 12:714677. https://doi.org/10.3389/fneur.2021.714677

Article  PubMed  PubMed Central  Google Scholar 

Luo S, He W, Zhao X et al (2022) Genetic testing and prenatal diagnosis of 671 Chinese pedigrees affected with Duchenne/Becker muscular dystrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39:925–931. https://doi.org/10.3760/cma.j.cn511374-20210911-00744

Article  PubMed  Google Scholar 

Ma S, Liao J, Zhang S et al (2023a) Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study. J Transl Med 21:779. https://doi.org/10.1186/s12967-023-04641-2

Article  PubMed  PubMed Central  Google Scholar 

Ma Y, Wang J, Li R et al (2023b) Mapping of meiotic recombination in human preimplantation blastocysts. G3 (Bethesda). https://doi.org/10.1093/g3journal/jkad031

Article  PubMed  Google Scholar 

Monaco AP, Walker AP, Millwood I et al (1992) A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene. Genomics 12:465–473. https://doi.org/10.1016/0888-7543(92)90436-v

Article  CAS  PubMed  Google Scholar 

Mukherjee M, Chaturvedi LS, Srivastava S et al (2003) De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases. Exp Mol Med 35:113–117. https://doi.org/10.1038/emm.2003.16

Article  CAS  PubMed  Google Scholar 

Ottolini CS, Newnham L, Capalbo A et al (2015) Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates. Nat Genet 47:727–735. https://doi.org/10.1038/ng.3306

Article  CAS  PubMed  PubMed Central  Google Scholar 

Oudet C, Heilig R, Hanauer A et al (1991) Nonradioactive assay for new microsatellite polymorphisms at the 5’ end of the dystrophin gene, and estimation of intragenic recombination. Am J Hum Genet 49:311–319

CAS  PubMed  PubMed Central  Google Scholar 

Pai E, Cameron E, McWilliams K (2022) Review of recombination events observed in preimplantation genetic testing for monogenic disordeRS (PGT-M) over a 2 year period. Fertil Steril 118:e19–e20. https://doi.org/10.1016/j.fertnstert.2022.08.074

Article  Google Scholar 

Porubsky D, Hops W, Ashraf H et al (2022) Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders. Cell 185(1986–2005):e26. https://doi.org/10.1016/j.cell.2022.04.017

Article  CAS  Google Scholar 

Thornhill AR, deDie-Smulders CE, Geraedts JP et al (2005) ESHRE PGD Consortium “Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS).” Hum Reprod 20:35–48. https://doi.org/10.1093/humrep/deh579

Article  CAS  PubMed  Google Scholar 

Viggiano E, Ergoli M, Picillo E et al (2016) Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy. Hum Genet 135:685–698. https://doi.org/10.1007/s00439-016-1666-6

Article  CAS  PubMed  Google Scholar 

Waldrop MA, Moore SA, Mathews KD et al (2022) Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy. Hum Mutat 43:511–528. https://doi.org/10.1002/humu.24343

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang Y, Yang Y, Liu J et al (2014) Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy. Mol Genet Genomics 289:1013–1021. https://doi.org/10.1007/s00438-014-0847-z

Article  CAS